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  2. Renal ciliopathies
  3. CEP104
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Renal ciliopathies

Gene: CEP104

Green List (high evidence)
CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 9 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in three unrelated patients with Joubert. Recognised on G2P
Created: 25 Jan 2017, 12:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 25 616781

Publications

Created: 25 Jan 2017, 12:03 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.452

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
OMIM
616690
Clinvar variants
Variants in CEP104
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CEP104 was added gene: CEP104 was added to Renal ciliopathies. Sources: Other,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25